Canonical Allele Identifier: CA507091292
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36317449A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826547A>T , CM000681.2:g.35826547A>T GRCh38
NC_000019.9:g.36317449A>T , CM000681.1:g.36317449A>T GRCh37
NC_000019.8:g.41009289A>T NCBI36
NG_013356.2:g.47741T>A , LRG_693:g.47741T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3693T>A MANE Select ENSP00000368190.4:p.Ser1231=
ENST00000353632.6:c.3573T>A ENSP00000343634.5:p.Ser1191=
ENST00000378910.9:c.3693T>A ENSP00000368190.4:p.Ser1231=
NM_004646.3:c.3693T>A , LRG_693t1:c.3693T>A NP_004637.1:p.Ser1231=
NM_004646.4:c.3693T>A MANE Select NP_004637.1:p.Ser1231=
Search 100 bp 5'
Search 100 bp 3'